ArticleScientific reports2019
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 46 citations in OpenAlex.
- Prevalence of hypophosphatasia in general and selected patient populations: a systematic review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Review
- Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?Journal of translational medicine · 2026Article
- Tissue-nonspecific alkaline phosphatase deficiency is associated with altered immune cell profiles in hypophosphatasia.Frontiers in immunology · 2026Article
- Six cases ofJBMR plus · 2025Article
- Functional andCells · 2025Article
- Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.Current osteoporosis reports · 2025Review
- Article
- Establishment of human periodontal ligament cell lines withFrontiers in cell and developmental biology · 2025Article
- Article
- Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.Journal of clinical medicine · 2024Review
- Article
- Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases.Case reports in rheumatology · 2024Article
- Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.Osteoporosis and sarcopenia · 2023Review
- Compromised Muscle Properties in a Severe Hypophosphatasia Murine Model.International journal of molecular sciences · 2023Article
- Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.Nature communications · 2023Article
- Systemic effects of hypophosphatasia characterization of two novel variants in theFrontiers in endocrinology · 2023Article
- Identifying adult hypophosphatasia in the rheumatology unit.Orphanet journal of rare diseases · 2022Article
- Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.International journal of molecular sciences · 2022Article
- [Prevalence of hypophosphatasia in adult patients in rheumatology].Zeitschrift fur Rheumatologie · 2022Article
- Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.Orphanet journal of rare diseases · 2022Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Hypophosphatasia (HPP) is a genetic disease caused by one or several mutations in ALPL gene encoding the tissue-nonspecific alkaline phosphatase affecting the mineralization process. Due to its low prevalence and lack of recognition, this metabolic disorder is generally confused with other more frequent bone disorders. An assessment of serum total alkaline phosphatase (ALP) levels was performed in 78,590 subjects. Pyridoxal-5'-phosphate (PLP) concentrations were determined and ALPL gene was sequenced in patients potentially affected by HPP. Functional validation of the novel mutations found was performed using a cell-based assay. Our results showed persistently low serum ALP levels in 0.12% of subjects. Among the studied subjects, 40% presented with HPP-related symptoms. Nine of them (~28%) had a history of fractures, 5 (~16%) subjects showed chondrocalcinosis and 4 (~13%) subjects presented with dental abnormalities. Eleven subjects showed increased PLP concentrations. Seven of them showed ALPL gene mutations (2 of the mutations corresponded to novel genetic variants). In summary, we identified two novel ALPL gene mutations associated with adult HPP. Using this protocol, almost half of the studied patients were diagnosed with HPP. Based on these results, the estimated prevalence of mild HPP in Spain could be up to double than previously reported.
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